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Details for TYR:c.649C>T, p.Arg217Trp

CHROMOSOME

11

GENOMIC COORDINATES

hg19	hg38
88911770	89178602

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

N.A.

CDNA CHANGE

c.649C>T

PROTEIN CHANGE

p.Arg217Trp

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
None	None	None	None	None	None

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.0001795	0.000123	0.0002324	0.0	0.0	0.0	0.0001939	0.0001639	0.0003928

ESP
AA	EA
0.0002272	0.0

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Possibly Damaging	2.990325	Disease causing

DBSNP ID

3 combinations linked to TYR:c.649C>T, p.Arg217Trp

OLI1095; OLI1096; OLI1097

1 disease linked to TYR:c.649C>T, p.Arg217Trp

Oculocutaneous albinism

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